A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5964322



Internal ID22739257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113464501..113464501hg38UCSC Ensembl
chr2:114222078..114222078hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17397549
Samples
Known GenesCBWD2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5964322
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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